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ITIH3 (inter-alpha-trypsin inhibitor heavy chain 3)
Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3699
Gene nameGene Name - the full gene name approved by the HGNC.
Inter-alpha-trypsin inhibitor heavy chain 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
ITIH3
SynonymsGene synonyms aliases
H3P, ITI-HC3, SHAP
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.1
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for sch
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0002576 Process Platelet degranulation TAS
GO:0004866 Function Endopeptidase inhibitor activity TAS 2465147
GO:0004867 Function Serine-type endopeptidase inhibitor activity IEA
GO:0005576 Component Extracellular region NAS 14718574
GO:0005576 Component Extracellular region TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q06033
Protein name Inter-alpha-trypsin inhibitor heavy chain H3 (ITI heavy chain H3) (ITI-HC3) (Inter-alpha-inhibitor heavy chain 3) (Serum-derived hyaluronan-associated protein) (SHAP)
Protein function May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essentia
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08487 VIT
45 → 156
Vault protein inter-alpha-trypsin domain
 Family
PF00092 VWA
284 → 466
von Willebrand factor type A domain
 Domain
PF06668 ITI_HC_C
684 → 871
Inter-alpha-trypsin inhibitor heavy chain C-terminus
 Family
Sequence 
MAFAWWPCLILALLSSLAASGFPRSPFRLLGKRSLPEGVANGIEVYSTKINSKVTSRFAH
NVVTMRAVNRADTAKEVSFDVELPKTAFITNFTLTIDGVTYPGNVKEKEVAKKQYEKAVS
QGKTAGLVKASGRKLEKFTVSVNVAAGSKVTFELTYEELLKRHKGKYEMYLKVQPKQLVK
HFEIEVDIFEPQGISMLDAEASFITNDLLGSALTKSFSGKKGHVSFKPSLDQQRSCPTCT
DSLLNGDFTITYDVNRESPGNVQIVNGYFVHFFAPQGLPVVPKNVAFVIDISGSMAGRKL
EQTKEALLRILEDMQEEDYLNFILFSGDVSTWKEHLVQATPENLQEARTFVKSMEDKGMT
NINDGLLRGISMLNKAREEHRIPERSTSIVIMLTDGDANVGESRPEKIQENVRNAIGGKF
PLYNLGFGNNLNYNFLENMALENHGFARRIYEDSDADLQLQGFYEEVANPLLTGVEMEYP
ENAILDLTQNTYQHFYDGSEIVVAGRLVDEDMNSFKADVKGHGATNDLTFTEEVDMKEME
KALQERDYIFGNYIERLWAYLTIEQLLEKRKNAHGEEKENLTARALDLSLKYHFVTPLTS
MVVTKPEDNEDERAIADKPGEDAEATPVSPAMSYLTSYQPPQNPYYYVDGDPHFIIQIPE
KDDALCFNIDEAPGTVLRLIQDAVTGLTVNGQITGDKRGSPDSKTRKTYFGKLGIANAQM
DFQVEVTTEKITLWNRAVPSTFSWLDTVTVTQDGLSMMINRKNMVVSFGDGVTFVVVLHQ
VWKKHPVHRDFLGFYVVDSHRMSAQTHGLLGQFFQPFDFKVSDIRPGSDPTKPDATLVVK
NHQLIVTRGSQKDYRKDASIGTKVVCWFVHNNGEGLIDGVHTDYIVPNLF
Sequence length 890
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
 
Reactome
    Platelet degranulation
Associated diseases
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Attention deficit hyperactivity disorder Attention deficit hyperactivity disorder rs120074176, rs786205019 23453885
Myocardial infarction Myocardial Infarction rs12316150, rs41303970, rs909253, rs7291467, rs2234693 17211523
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 22614287, 23974872, 28540026, 30626913, 23453885, 30285260, 29483656
Unknown
Disease name Disease term dbSNP ID References
Anxiety disorder Anxiety 29942085
Bipolar disorder Bipolar Disorder 30626913, 23453885, 25136889, 21926974, 24461634, 23070075, 21926972
Development disorder Child Development Disorders, Pervasive 28540026, 23453885
Liver carcinoma Liver carcinoma 19363144

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